EAHAD Factor VIII Variant Database
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Search Results: 2 unique variants retrieved


  c.6914_6918delATCAA
p.(Asn2305Argfs*78) (Legacy AA No.2286)
Variant Type:
Deletion
Domain:
C2
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 26
No of bases:
5
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 26
Individual Case Information : Show

  c.6915T>G
p.(Asn2305Lys) (Legacy AA No.2286)
Variant Type:
Point
Domain:
C2
Sequence Context:
AAT > AAG
Variant Effect:
Missense
Location:
Exon 26
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show